title: [Adult psychiatric aspects of Niemann-Pick disease].
abstract: Niemann-Pick disease (NPD) is a group of distinct rare disorders (i.e. NPD-A; NPD-B; NPD-C) - with autosomal recessive inheritance pattern - within the class of the inborn disorders of the sphingolipid metabolism (called sphingolipidoses). Since patients with NPD-A do not survive into adulthood and most patients with NPD-B are free from neuropsychiatric symptoms we discuss only briefly type-A and -B NPD and mainly constrict our review discussing the neuropsychiatric symptoms along with the pathomechanism and the treatment of NPD-C. NPD-C is clinically heterogeneous, with notable variations in age at onset, course and symptoms. Along with systemic signs, neurologic and psychiatric symptoms are quite frequent in NPD-C and in its adult form sometimes psychiatric symptoms are the first ones appearing. Unfortunately, the majority of clinicans (including adult psychiatrists and neurologists) are not aware of the symptom group characteristic to NPD-C so patients with this disorder are frequently misdiagnosed in the clinical practice. Since neuropsychiatric manifestations of NPD-C may be treated with a substrate reduction agent (miglustat) with greater awareness of the identification of neuropsychiatric symptoms in due course is the prerequisite of proper and early diagnosis and treatment.
authors.affiliation: Klinikai és Kutatási Mentálhigiénés Osztály, Semmelweis Egyetem, Kútvölgyi Klinikai Tömb, Budapest, Hungary. faludi@kut.sote.hu
authors.forename: Gábor
authors.initials: G
authors.lastname: Faludi
authors.forename: Xénia
authors.initials: X
authors.lastname: Gonda
authors.forename: Péter
authors.initials: P
authors.lastname: Döme
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives / Q000627:therapeutic use; D017668:Age of Onset; D002385:Cataplexy / Q000209:etiology; D003072:Cognition Disorders / Q000209:etiology; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D006801:Humans; D052536:Niemann-Pick Disease, Type A / Q000175:diagnosis / Q000523:psychology; D052537:Niemann-Pick Disease, Type B / Q000175:diagnosis / Q000523:psychology; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis / Q000523:psychology; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics / Q000523:psychology*; D013107:Sphingolipids / Q000378:metabolism; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency / Q000378:metabolism
chemical_list: D004791:Enzyme Inhibitors; D013107:Sphingolipids; D017485:1-Deoxynojirimycin; C059896:miglustat; D013108:Sphingomyelin Phosphodiesterase